ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.788-1786C>T (rs397509002)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000225470 SCV000282289 pathogenic Breast-ovarian cancer, familial 1 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000047941 SCV000075954 pathogenic Hereditary breast and ovarian cancer syndrome 2017-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln905*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in an individual with personal and/or family history of breast cancer (PMID: 21702907). ClinVar contains an entry for this variant (Variation ID: 54655). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000225470 SCV000325443 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000484764 SCV000567787 pathogenic not provided 2015-09-01 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.2713C>T at the cDNA level and p.Gln905Ter (Q905X) at the protein level. Using alternate nomenclature, This variant would be defined as 2832C>T. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant was observed in a series of samples undergoing BRCA1/2 analysis (Hondow 2011) and is considered pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506839 SCV000602694 pathogenic not specified 2017-01-20 criteria provided, single submitter clinical testing

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